Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv7097384

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:164

Description:NC_000007.13:g.(?_66094052)_(66094215_?)dup AND Progressive myoclonic epilepsy type 3

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 86 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):66,629,065-66,629,228

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097384	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	66,629,065	66,629,228
nsv7097384	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	66,094,052	66,094,215

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790099	duplication	Multiple	Multiple	EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3; Epilepsy, progressive myoclonic 3; Progressive myoclonic epilepsy type 3; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003113755.2, VCV002427426.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790099	Remapped	Perfect	NC_000007.14:g.(?_ 66629065)_(6662922 8_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	66,629,065	66,629,228
nssv18790099	Submitted genomic		NC_000007.13:g.(?_ 66094052)_(6609421 5_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	66,094,052	66,094,215

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790099	GRCh37: NC_000007.13:g.(?_66094052)_(66094215_?)dup	duplication	germline	EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3; Epilepsy, progressive myoclonic 3; Progressive myoclonic epilepsy type 3; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003113755.2, VCV002427426.2

No genotype data were submitted for this variant

You are here: NCBI